Test Detail

Factor XI deficiency

Hematológico · Cat

Factor XI deficiency is a hereditary haemostatic disorder. Factor XI participates in the intrinsic pathway of coagulation and its deficiency prolongs the activated partial thromboplastin time (aPTT), producing a mild to moderate bleeding diathesis. Affected cats bleed more than expected after surgeries, dental extractions or trauma, although severe spontaneous haemorrhages are uncommon.
Inheritance patternAutosomal recessive
Gene / MutationF11 c.1546G>A p.(V516M) (NC_058371.1:g.17127925G>A, Fca126_mat1.0) (OMIA:000363-9685).
PenetranceHomozygotes have very low factor XI activity and increased bleeding risk, although variable between individuals. Heterozygotes are usually asymptomatic, with intermediate activity.
Codeehxh
Turnaround time10 days
Price52,60 €

Incidence

It is associated with the Maine Coon (Kuder et al. 2022; OMIA:000363-9685); published carrier frequencies are limited. It is a probably underdiagnosed disease because its clinical expression is subtle and may go unnoticed without laboratory tests.

Breeder management

- Test Maine Coon breeding animals, especially if there is a history of bleeding in the line.\n- Do not cross two carriers: on average, 25% of the litter would be affected.\n- A carrier can be crossed with a clear cat and the offspring intended for breeding tested.\n- If an affected cat needs surgery, plan it with the veterinarian (plasma reserve, local haemostatic measures) and avoid drugs that interfere with haemostasis.

Specialist notes

Differential diagnosis with other feline coagulopathies: factor XII deficiency (very common in cats, prolonged aPTT without bleeding risk) and von Willebrand disease. Functional confirmation is the measurement of factor XI activity. In affected cats, non-steroidal anti-inflammatory drugs and anticoagulants should be avoided; in carriers, special precautions are usually not required.

References

1. Kuder H, Dickeson SK, Brooks MB, Kehl A, Müller E, Gailani D, Giger U. 2022. A common missense variant causing factor XI deficiency and increased bleeding tendency in Maine Coon cats (Genes, Basel) (PMID 35627175).
2. OMIA:000363-9685 (Factor XI deficiency, F11, Felis catus).

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